Advances in the lysinuric protein intolerance
10.3760/cma.j.cn101070-20230615-00484
- VernacularTitle:赖氨酸尿性蛋白耐受不良的研究进展
- Author:
Jiyan ZHANG
1
;
Xiaojun DUAN
;
Jin ZHANG
;
Yanping CHEN
Author Information
1. 湖南省儿童医院呼吸内科，长沙 410001
- Keywords:
Lysinuric protein intolerance;
SLC7A7;
Arginine;
Autoimmune disease
- From:
Chinese Journal of Applied Clinical Pediatrics
2024;39(7):547-551
- CountryChina
- Language:Chinese
-
Abstract:
Lysinuric protein intolerance (LPI) is a rare autosomal recessive disorder involving digestive, renal, respiratory, and nervous systems caused by SLC7A7 gene mutation.It was first reported in Finland and now has been found worldwide.A total of 8 cases have been reported in China.The abnormal function of the y + amino acid transporter caused by SLC7A7 gene mutation can explain some clinical features, but the pathophysiological mechanism underlying the associated lung, kidney and blood system disorders is not clear.The varying clinical manifestations of LPI often lead to misdiagnosis or delayed diagnosis.This article reviews the pathogenesis, clinical characteristics, diagnosis and treatment of LPI, to enhance clinicians′ understanding of this disease.
